Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome.
Inborn errors involving the oxidative metabolism of fatty acids may present clinically with a Reye syndrome-like picture. This case report of a patient with medium-chain acyl CoA dehydrogenase (MCAD) deficiency illustrates that electron microscopy may help to differentiate this disorder from Reye syndrome even if a liver biopsy is performed in a patient who recovered from an acute metabolic decompensation. Together with this case, a review of the few reports in the literature of pathological findings in MCAD deficiency is given. Changes uncharacteristic for Reye syndrome are a large-droplet steatosis and the presence of distinctive mitochondrial abnormalities on electron microscopy. The detection of an electron dense mitochondrial matrix and a widened space of inner mitochondrial membranes rules out Reye syndrome and is suggestive of a disorder of mitochondrial fatty acid oxidation.
Santer
R
R
Department of Paediatrics, Children's Hospital of Buffalo, SUNY.
Schmidt-Sommerfeld
E
E
Leung
Y K
YK
Fischer
J E
JE
Lebenthal
E
E
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000473:pathology; D008297:Male; D008930:Mitochondria, Liver / Q000648:ultrastructure*; D012202:Reye Syndrome / Q000175:diagnosis* / Q000473:pathology
D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase